TSC2:Ensemblv115

TSC complex subunit 2
OMIM: 191092, ClinGen, DECIPHER

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green TSC2 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis-2, MIM# 613254

Green TSC2 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TSC2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis 2, MIM# 613254

Red TSC2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Tuberous sclerosis-2, MIM#613254

Green TSC2 in Incidentalome


Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis-2, MIM# 613254

Green TSC2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TSC2 in Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Victorian Clinical Genetics Services
  • KidGen_Cystic v38.1.0
  • Expert Review Green
  • Expert Review Green

Green TSC2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis 2, MIM# 613254

Green TSC2 in Additional findings_Adult


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Melbourne Genomics Health Alliance
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis-2, MIM# 613254

Green TSC2 in Lymphoedema_syndromic

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lymphangioleiomyomatosis, somatic 606690
  • ?Focal cortical dysplasia, type II, somatic 607341
  • Tuberous sclerosis-2 613254

Green TSC2 in Renal cancer


Level 2: Cancer susceptibility
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • SA Pathology
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis 2

Green TSC2 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Tuberous sclerosis 2

Green TSC2 in Focal Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GREP
Phenotypes
  • Tuberous sclerosis-2 613254
  • Focal cortical dysplasia, type II, somatic 607341

Green TSC2 in Pneumothorax

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lymphangioleiomyomatosis, MONDO:0011705
  • Tuberous sclerosis-2, OMIM:613254

Green TSC2 in Facial papules


Level 2: Dermatological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • tuberous sclerosis MONDO:0001734

Green TSC2 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Melbourne Genomics Health Alliance
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis-2, MIM# 613254